-
1
-
-
0043264447
-
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
-
Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. 2003. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat 22:229-244.
-
(2003)
Hum Mutat
, vol.22
, pp. 229-244
-
-
Abeysinghe, S.S.1
Chuzhanova, N.2
Krawczak, M.3
Ball, E.V.4
Cooper, D.N.5
-
2
-
-
67849122320
-
MEME SUITE: Tools for motif discovery and searching
-
Bailey TL, Boden M, Buske FA, Frith M, Grant CE, Clementi L, Ren J, Li WW, Noble WS. 2009. MEME SUITE: Tools for motif discovery and searching. Nucleic Acids Res 37:W202-W208.
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Bailey, T.L.1
Boden, M.2
Buske, F.A.3
Frith, M.4
Grant, C.E.5
Clementi, L.6
Ren, J.7
Li, W.W.8
Noble, W.S.9
-
3
-
-
44849143972
-
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair
-
Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns J-P, Marynen P, Schwartz CE, Froyen G. 2008. Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res 18:847-858.
-
(2008)
Genome Res
, vol.18
, pp. 847-858
-
-
Bauters, M.1
Van Esch, H.2
Friez, M.J.3
Boespflug-Tanguy, O.4
Zenker, M.5
Vianna-Morgante, A.M.6
Rosenberg, C.7
Ignatius, J.8
Raynaud, M.9
Hollanders, K.10
Govaerts, K.11
Vandenreijt, K.12
Niel, F.13
Blanc, P.14
Stevenson, R.E.15
Fryns, J.-P.16
Marynen, P.17
Schwartz, C.E.18
Froyen, G.19
-
4
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SFA, Schellenberg GD, Geschwind DH, Hakonarson H. 2009. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5:e1000536.
-
(2009)
PLoS Genet
, vol.5
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
Glessner, J.T.4
Herman, E.I.5
Sonnenblick, L.I.6
Alvarez Retuerto, A.I.7
Imielinski, M.8
Hadley, D.9
Bradfield, J.P.10
Kim, C.11
Gidaya, N.B.12
Lindquist, I.13
Hutman, T.14
Sigman, M.15
Kustanovich, V.16
Lajonchere, C.M.17
Singleton, A.18
Kim, J.19
Wassink, T.H.20
McMahon, W.M.21
Owley, T.22
Sweeney, J.A.23
Coon, H.24
Nurnberger, J.I.25
Li, M.26
Cantor, R.M.27
Minshew, N.J.28
Sutcliffe, J.S.29
Cook, E.H.30
Dawson, G.31
Buxbaum, J.D.32
Grant, S.F.A.33
Schellenberg, G.D.34
Geschwind, D.H.35
Hakonarson, H.36
more..
-
5
-
-
66149120624
-
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
-
Carvalho CMB, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. 2009. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet 18:2188-2203.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 2188-2203
-
-
Carvalho, C.M.B.1
Zhang, F.2
Liu, P.3
Patel, A.4
Sahoo, T.5
Bacino, C.A.6
Shaw, C.7
Peacock, S.8
Pursley, A.9
Tavyev, Y.J.10
Ramocki, M.B.11
Nawara, M.12
Obersztyn, E.13
Vianna-Morgante, A.M.14
Stankiewicz, P.15
Zoghbi, H.Y.16
Cheung, S.W.17
Lupski, J.R.18
-
6
-
-
80055003130
-
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome
-
Carvalho CMB, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. 2011. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43:1074-1081.
-
(2011)
Nat Genet
, vol.43
, pp. 1074-1081
-
-
Carvalho, C.M.B.1
Ramocki, M.B.2
Pehlivan, D.3
Franco, L.M.4
Gonzaga-Jauregui, C.5
Fang, P.6
McCall, A.7
Pivnick, E.K.8
Hines-Dowell, S.9
Seaver, L.H.10
Friehling, L.11
Lee, S.12
Smith, R.13
Del Gaudio, D.14
Withers, M.15
Liu, P.16
Cheung, S.W.17
Belmont, J.W.18
Zoghbi, H.Y.19
Hastings, P.J.20
Lupski, J.R.21
more..
-
7
-
-
77956849313
-
Genomic rearrangements in inherited disease and cancer
-
Chen J-M, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP. 2010. Genomic rearrangements in inherited disease and cancer. Semin Cancer Biol 20:222-233.
-
(2010)
Semin Cancer Biol
, vol.20
, pp. 222-233
-
-
Chen, J.-M.1
Cooper, D.N.2
Férec, C.3
Kehrer-Sawatzki, H.4
Patrinos, G.P.5
-
8
-
-
84876374695
-
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs
-
Chen X, Shen Y, Zhang F, Chiang C, Pillalamarri V, Blumenthal I, Talkowski M, Wu B-L, Gusella JF. 2013. Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet 92:375-386.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 375-386
-
-
Chen, X.1
Shen, Y.2
Zhang, F.3
Chiang, C.4
Pillalamarri, V.5
Blumenthal, I.6
Talkowski, M.7
Wu, B.-L.8
Gusella, J.F.9
-
9
-
-
84862777955
-
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
-
S1.
-
Chiang C, Jacobsen JC, Ernst C, Hanscom C, Heilbut A, Blumenthal I, Mills RE, Kirby A, Lindgren AM, Rudiger SR, McLaughlan CJ, Bawden CS, Reid SJ, Faull RLM, Snell RG, Hall IM, Shen Y, Ohsumi TK, Borowsky ML, Daly MJ, Lee C, Morton CC, MacDonald ME, Gusella JF, Talkowski ME. 2012. Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration. Nat Genet 44:390-397. S1.
-
(2012)
Nat Genet
, vol.44
, pp. 390-397
-
-
Chiang, C.1
Jacobsen, J.C.2
Ernst, C.3
Hanscom, C.4
Heilbut, A.5
Blumenthal, I.6
Mills, R.E.7
Kirby, A.8
Lindgren, A.M.9
Rudiger, S.R.10
McLaughlan, C.J.11
Bawden, C.S.12
Reid, S.J.13
Faull, R.L.M.14
Snell, R.G.15
Hall, I.M.16
Shen, Y.17
Ohsumi, T.K.18
Borowsky, M.L.19
Daly, M.J.20
Lee, C.21
Morton, C.C.22
MacDonald, M.E.23
Gusella, J.F.24
Talkowski, M.E.25
more..
-
10
-
-
77951700086
-
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
-
Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME. 2010. Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet 42:385-391.
-
(2010)
Nat Genet
, vol.42
, pp. 385-391
-
-
Conrad, D.F.1
Bird, C.2
Blackburne, B.3
Lindsay, S.4
Mamanova, L.5
Lee, C.6
Turner, D.J.7
Hurles, M.E.8
-
11
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
1000 Genomes Project Consortium.
-
1000 Genomes Project Consortium. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
Altshuler, D.2
Auton, A.3
Brooks, L.D.4
Durbin, R.M.5
Gibbs, R.A.6
Hurles, M.E.7
McVean, G.A.8
-
12
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PMA, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SFA, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. 2009. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459:569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
Imielinski, M.11
Frackelton, E.C.12
Reichert, J.13
Crawford, E.L.14
Munson, J.15
Sleiman, P.M.A.16
Chiavacci, R.17
Annaiah, K.18
Thomas, K.19
Hou, C.20
Glaberson, W.21
Flory, J.22
Otieno, F.23
Garris, M.24
Soorya, L.25
Klei, L.26
Piven, J.27
Meyer, K.J.28
Anagnostou, E.29
Sakurai, T.30
Game, R.M.31
Rudd, D.S.32
Zurawiecki, D.33
McDougle, C.J.34
Davis, L.K.35
Miller, J.36
Posey, D.J.37
Michaels, S.38
Kolevzon, A.39
Silverman, J.M.40
Bernier, R.41
Levy, S.E.42
Schultz, R.T.43
Dawson, G.44
Owley, T.45
McMahon, W.M.46
Wassink, T.H.47
Sweeney, J.A.48
Nurnberger, J.I.49
Coon, H.50
Sutcliffe, J.S.51
Minshew, N.J.52
Grant, S.F.A.53
Bucan, M.54
Cook, E.H.55
Buxbaum, J.D.56
Devlin, B.57
Schellenberg, G.D.58
Hakonarson, H.59
more..
-
13
-
-
59249105978
-
A microhomology-mediated break-induced replication model for the origin of human copy number variation
-
Hastings PJ, Ira G, Lupski JR. 2009. A microhomology-mediated break-induced replication model for the origin of human copy number variation. PLoS Genet 5:e1000327.
-
(2009)
PLoS Genet
, vol.5
-
-
Hastings, P.J.1
Ira, G.2
Lupski, J.R.3
-
14
-
-
79955145012
-
Maternally derived microduplications at 15q11-q13: Implication of imprinted genes in psychotic illness
-
Ingason A, Kirov G, Giegling I, Hansen T, Isles AR, Jakobsen KD, Kristinsson KT, le Roux L, Gustafsson O, Craddock N, Möller H-J, McQuillin A, Muglia P, Cichon S, Rietschel M, Ophoff RA, Djurovic S, Andreassen OA, Pietiläinen OPH, Peltonen L, Dempster E, Collier DA, St Clair D, Rasmussen HB, Glenthøj BY, Kiemeney LA, Franke B, Tosato S, Bonetto C, Saemundsen E, Hreidarsson SJ, Nöthen MM, Gurling H, O'Donovan MC, Owen MJ, Sigurdsson E, Petursson H, Stefansson H, Rujescu D, Stefansson K, Werge T. 2011a. Maternally derived microduplications at 15q11-q13: Implication of imprinted genes in psychotic illness. Am J Psychiatry 168:408-417.
-
(2011)
Am J Psychiatry
, vol.168
, pp. 408-417
-
-
Ingason, A.1
Kirov, G.2
Giegling, I.3
Hansen, T.4
Isles, A.R.5
Jakobsen, K.D.6
Kristinsson, K.T.7
le Roux, L.8
Gustafsson, O.9
Craddock, N.10
Möller, H.-J.11
McQuillin, A.12
Muglia, P.13
Cichon, S.14
Rietschel, M.15
Ophoff, R.A.16
Djurovic, S.17
Andreassen, O.A.18
Pietiläinen, O.P.H.19
Peltonen, L.20
Dempster, E.21
Collier, D.A.22
St Clair, D.23
Rasmussen, H.B.24
Glenthøj, B.Y.25
Kiemeney, L.A.26
Franke, B.27
Tosato, S.28
Bonetto, C.29
Saemundsen, E.30
Hreidarsson, S.J.31
Nöthen, M.M.32
Gurling, H.33
O'Donovan, M.C.34
Owen, M.J.35
Sigurdsson, E.36
Petursson, H.37
Stefansson, H.38
Rujescu, D.39
Stefansson, K.40
Werge, T.41
more..
-
15
-
-
84947649513
-
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
-
Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, Pietiläinen OPH, Buizer-Voskamp JE, Strengman E, Francks C, Muglia P, Gylfason A, Gustafsson O, Olason PI, Steinberg S, Hansen T, Jakobsen KD, Rasmussen HB, Giegling I, Möller H-J, Hartmann A, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Bramon E, Kiemeney LA, Franke B, Murray R, Vassos E, Toulopoulou T, Mühleisen TW, Tosato S, Ruggeri M, Djurovic S, Andreassen OA, Zhang Z, Werge T, Ophoff RA, Rietschel M, Nöthen MM, Petursson H, Stefansson H, Peltonen L, Collier D, Stefansson K, St Clair DM. 2011b. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 16:17-25.
-
(2011)
Mol Psychiatry
, vol.16
, pp. 17-25
-
-
Ingason, A.1
Rujescu, D.2
Cichon, S.3
Sigurdsson, E.4
Sigmundsson, T.5
Pietiläinen, O.P.H.6
Buizer-Voskamp, J.E.7
Strengman, E.8
Francks, C.9
Muglia, P.10
Gylfason, A.11
Gustafsson, O.12
Olason, P.I.13
Steinberg, S.14
Hansen, T.15
Jakobsen, K.D.16
Rasmussen, H.B.17
Giegling, I.18
Möller, H.-J.19
Hartmann, A.20
Crombie, C.21
Fraser, G.22
Walker, N.23
Lonnqvist, J.24
Suvisaari, J.25
Tuulio-Henriksson, A.26
Bramon, E.27
Kiemeney, L.A.28
Franke, B.29
Murray, R.30
Vassos, E.31
Toulopoulou, T.32
Mühleisen, T.W.33
Tosato, S.34
Ruggeri, M.35
Djurovic, S.36
Andreassen, O.A.37
Zhang, Z.38
Werge, T.39
Ophoff, R.A.40
Rietschel, M.41
Nöthen, M.M.42
Petursson, H.43
Stefansson, H.44
Peltonen, L.45
Collier, D.46
Stefansson, K.47
St Clair, D.M.48
more..
-
16
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium.
-
International Schizophrenia Consortium. 2008. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455:237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
17
-
-
0029102665
-
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11
-
Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK. 1995. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 92:7612-7616.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 7612-7616
-
-
Karayiorgou, M.1
Morris, M.A.2
Morrow, B.3
Shprintzen, R.J.4
Goldberg, R.5
Borrow, J.6
Gos, A.7
Nestadt, G.8
Wolyniec, P.S.9
Lasseter, V.K.10
-
18
-
-
38749084216
-
Disruption of neurexin 1 associated with autism spectrum disorder
-
Kim H-G, Kishikawa S, Higgins AW, Seong I-S, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. 2008. Disruption of neurexin 1 associated with autism spectrum disorder. Am J Hum Genet 82:199-207.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 199-207
-
-
Kim, H.-G.1
Kishikawa, S.2
Higgins, A.W.3
Seong, I.-S.4
Donovan, D.J.5
Shen, Y.6
Lally, E.7
Weiss, L.A.8
Najm, J.9
Kutsche, K.10
Descartes, M.11
Holt, L.12
Braddock, S.13
Troxell, R.14
Kaplan, L.15
Volkmar, F.16
Klin, A.17
Tsatsanis, K.18
Harris, D.J.19
Noens, I.20
Pauls, D.L.21
Daly, M.J.22
MacDonald, M.E.23
Morton, C.C.24
Quade, B.J.25
Gusella, J.F.26
more..
-
19
-
-
38349106160
-
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
-
Kirov G, Gumus D, Chen W, Norton N, Georgieva L, Sari M, O'Donovan MC, Erdogan F, Owen MJ, Ropers H-H, Ullmann R. 2008. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 17:458-465.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 458-465
-
-
Kirov, G.1
Gumus, D.2
Chen, W.3
Norton, N.4
Georgieva, L.5
Sari, M.6
O'Donovan, M.C.7
Erdogan, F.8
Owen, M.J.9
Ropers, H.-H.10
Ullmann, R.11
-
20
-
-
84856225986
-
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
-
Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, Lagemaat LN, van de Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SGN, Purcell S, Sklar P, O'Donovan MC, Owen MJ. 2012. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry 17:142-153.
-
(2012)
Mol Psychiatry
, vol.17
, pp. 142-153
-
-
Kirov, G.1
Pocklington, A.J.2
Holmans, P.3
Ivanov, D.4
Ikeda, M.5
Ruderfer, D.6
Moran, J.7
Chambert, K.8
Toncheva, D.9
Georgieva, L.10
Grozeva, D.11
Fjodorova, M.12
Wollerton, R.13
Rees, E.14
Nikolov, I.15
Lagemaat, L.N.16
van de Bayés, A.17
Fernandez, E.18
Olason, P.I.19
Böttcher, Y.20
Komiyama, N.H.21
Collins, M.O.22
Choudhary, J.23
Stefansson, K.24
Stefansson, H.25
Grant, S.G.N.26
Purcell, S.27
Sklar, P.28
O'Donovan, M.C.29
Owen, M.J.30
more..
-
21
-
-
33745619547
-
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
-
Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. 2006. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15:2250-2265.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2250-2265
-
-
Lee, J.A.1
Inoue, K.2
Cheung, S.W.3
Shaw, C.A.4
Stankiewicz, P.5
Lupski, J.R.6
-
22
-
-
37349109667
-
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
-
Lee JA, Carvalho CMB, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
-
(2007)
Cell
, vol.131
, pp. 1235-1247
-
-
Lee, J.A.1
Carvalho, C.M.B.2
Lupski, J.R.3
-
23
-
-
79952710338
-
Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
-
Levinson DF, Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F, Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Kendler KS, Freedman R, Dudbridge F, Pe'er I, Hakonarson H, Bergen SE, Fanous AH, Holmans PA, Gejman PV. 2011. Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 168:302-316.
-
(2011)
Am J Psychiatry
, vol.168
, pp. 302-316
-
-
Levinson, D.F.1
Duan, J.2
Oh, S.3
Wang, K.4
Sanders, A.R.5
Shi, J.6
Zhang, N.7
Mowry, B.J.8
Olincy, A.9
Amin, F.10
Cloninger, C.R.11
Silverman, J.M.12
Buccola, N.G.13
Byerley, W.F.14
Black, D.W.15
Kendler, K.S.16
Freedman, R.17
Dudbridge, F.18
Pe'er, I.19
Hakonarson, H.20
Bergen, S.E.21
Fanous, A.H.22
Holmans, P.A.23
Gejman, P.V.24
more..
-
24
-
-
84865839935
-
Genome-wide association study of multiplex schizophrenia pedigrees
-
Schizophrenia Psychiatric GWAS Consortium.
-
Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN, Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M, Ripke S. Dudbridge, F, Holmans PA, Schizophrenia Psychiatric GWAS Consortium. 2012. Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry 169:963-973.
-
(2012)
Am J Psychiatry
, vol.169
, pp. 963-973
-
-
Levinson, D.F.1
Shi, J.2
Wang, K.3
Oh, S.4
Riley, B.5
Pulver, A.E.6
Wildenauer, D.B.7
Laurent, C.8
Mowry, B.J.9
Gejman, P.V.10
Owen, M.J.11
Kendler, K.S.12
Nestadt, G.13
Schwab, S.G.14
Mallet, J.15
Nertney, D.16
Sanders, A.R.17
Williams, N.M.18
Wormley, B.19
Lasseter, V.K.20
Albus, M.21
Godard-Bauché, S.22
Alexander, M.23
Duan, J.24
O'Donovan, M.C.25
Walsh, D.26
O'Neill, A.27
Papadimitriou, G.N.28
Dikeos, D.29
Maier, W.30
Lerer, B.31
Campion, D.32
Cohen, D.33
Jay, M.34
Fanous, A.35
Eichhammer, P.36
Silverman, J.M.37
Norton, N.38
Zhang, N.39
Hakonarson, H.40
Gao, C.41
Citri, A.42
Hansen, M.43
Ripke, S.44
Dudbridge, F.45
Holmans, P.A.46
more..
-
25
-
-
38049115657
-
The mechanism of human nonhomologous DNA end joining
-
Lieber MR. 2008. The mechanism of human nonhomologous DNA end joining. J Biol Chem 283:1-5.
-
(2008)
J Biol Chem
, vol.283
, pp. 1-5
-
-
Lieber, M.R.1
-
26
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. 2008. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82:477-488.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
Thiruvahindrapduram, B.11
Fiebig, A.12
Schreiber, S.13
Friedman, J.14
Ketelaars, C.E.J.15
Vos, Y.J.16
Ficicioglu, C.17
Kirkpatrick, S.18
Nicolson, R.19
Sloman, L.20
Summers, A.21
Gibbons, C.A.22
Teebi, A.23
Chitayat, D.24
Weksberg, R.25
Thompson, A.26
Vardy, C.27
Crosbie, V.28
Luscombe, S.29
Baatjes, R.30
Zwaigenbaum, L.31
Roberts, W.32
Fernandez, B.33
Szatmari, P.34
Scherer, S.W.35
more..
-
27
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee Y-H, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimäki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nöthen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King M-C, Sebat J. 2009. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41:1223-1227.
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
Addington, A.M.4
McClellan, J.5
Yoon, S.6
Perkins, D.O.7
Dickel, D.E.8
Kusenda, M.9
Krastoshevsky, O.10
Krause, V.11
Kumar, R.A.12
Grozeva, D.13
Malhotra, D.14
Walsh, T.15
Zackai, E.H.16
Kaplan, P.17
Ganesh, J.18
Krantz, I.D.19
Spinner, N.B.20
Roccanova, P.21
Bhandari, A.22
Pavon, K.23
Lakshmi, B.24
Leotta, A.25
Kendall, J.26
Lee, Y.-H.27
Vacic, V.28
Gary, S.29
Iakoucheva, L.M.30
Crow, T.J.31
Christian, S.L.32
Lieberman, J.A.33
Stroup, T.S.34
Lehtimäki, T.35
Puura, K.36
Haldeman-Englert, C.37
Pearl, J.38
Goodell, M.39
Willour, V.L.40
Derosse, P.41
Steele, J.42
Kassem, L.43
Wolff, J.44
Chitkara, N.45
McMahon, F.J.46
Malhotra, A.K.47
Potash, J.B.48
Schulze, T.G.49
Nöthen, M.M.50
Cichon, S.51
Rietschel, M.52
Leibenluft, E.53
Kustanovich, V.54
Lajonchere, C.M.55
Sutcliffe, J.S.56
Skuse, D.57
Gill, M.58
Gallagher, L.59
Mendell, N.R.60
Craddock, N.61
Owen, M.J.62
O'Donovan, M.C.63
Shaikh, T.H.64
Susser, E.65
Delisi, L.E.66
Sullivan, P.F.67
Deutsch, C.K.68
Rapoport, J.69
Levy, D.L.70
King, M.-C.71
Sebat, J.72
more..
-
28
-
-
54849404458
-
MMEJ repair of double-strand breaks (director's cut): Deleted sequences and alternative endings
-
McVey M, Lee SE. 2008. MMEJ repair of double-strand breaks (director's cut): Deleted sequences and alternative endings. Trends Genet 24:529-538.
-
(2008)
Trends Genet
, vol.24
, pp. 529-538
-
-
McVey, M.1
Lee, S.E.2
-
29
-
-
84975804424
-
Mapping copy number variation by population-scale genome sequencing
-
1000 Genomes Project.
-
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HYK, Leng J, Li R, Li Y, Lin C-Y, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO, 1000 Genomes Project. 2011. Mapping copy number variation by population-scale genome sequencing. Nature 470:59-65.
-
(2011)
Nature
, vol.470
, pp. 59-65
-
-
Mills, R.E.1
Walter, K.2
Stewart, C.3
Handsaker, R.E.4
Chen, K.5
Alkan, C.6
Abyzov, A.7
Yoon, S.C.8
Ye, K.9
Cheetham, R.K.10
Chinwalla, A.11
Conrad, D.F.12
Fu, Y.13
Grubert, F.14
Hajirasouliha, I.15
Hormozdiari, F.16
Iakoucheva, L.M.17
Iqbal, Z.18
Kang, S.19
Kidd, J.M.20
Konkel, M.K.21
Korn, J.22
Khurana, E.23
Kural, D.24
Lam, H.Y.K.25
Leng, J.26
Li, R.27
Li, Y.28
Lin, C.-Y.29
Luo, R.30
Mu, X.J.31
Nemesh, J.32
Peckham, H.E.33
Rausch, T.34
Scally, A.35
Shi, X.36
Stromberg, M.P.37
Stütz, A.M.38
Urban, A.E.39
Walker, J.A.40
Wu, J.41
Zhang, Y.42
Zhang, Z.D.43
Batzer, M.A.44
Ding, L.45
Marth, G.T.46
McVean, G.47
Sebat, J.48
Snyder, M.49
Wang, J.50
Ye, K.51
Eichler, E.E.52
Gerstein, M.B.53
Hurles, M.E.54
Lee, C.55
McCarroll, S.A.56
Korbel, J.O.57
more..
-
30
-
-
84978024392
-
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
-
Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert I-M, Wichmann H-E, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T. 2013. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54:256-264.
-
(2013)
Epilepsia
, vol.54
, pp. 256-264
-
-
Møller, R.S.1
Weber, Y.G.2
Klitten, L.L.3
Trucks, H.4
Muhle, H.5
Kunz, W.S.6
Mefford, H.C.7
Franke, A.8
Kautza, M.9
Wolf, P.10
Dennig, D.11
Schreiber, S.12
Rückert, I.-M.13
Wichmann, H.-E.14
Ernst, J.P.15
Schurmann, C.16
Grabe, H.J.17
Tommerup, N.18
Stephani, U.19
Lerche, H.20
Hjalgrim, H.21
Helbig, I.22
Sander, T.23
more..
-
31
-
-
77955568656
-
Microdeletions of 3q29 confer high risk for schizophrenia
-
Mulle JG, Dodd AF, McGrath JA, Wolyniec PS, Mitchell AA, Shetty AC, Sobreira NL, Valle D, Rudd MK, Satten G, Cutler DJ, Pulver AE, Warren ST. 2010. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 87:229-236.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 229-236
-
-
Mulle, J.G.1
Dodd, A.F.2
McGrath, J.A.3
Wolyniec, P.S.4
Mitchell, A.A.5
Shetty, A.C.6
Sobreira, N.L.7
Valle, D.8
Rudd, M.K.9
Satten, G.10
Cutler, D.J.11
Pulver, A.E.12
Warren, S.T.13
-
32
-
-
0036590135
-
Analysis of 22 deletion breakpoints in dystrophin intron 49
-
Nobile C, Toffolatti L, Rizzi F, Simionati B, Nigro V, Cardazzo B, Patarnello T, Valle G, Danieli GA. 2002. Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum Genet 110:418-421.
-
(2002)
Hum Genet
, vol.110
, pp. 418-421
-
-
Nobile, C.1
Toffolatti, L.2
Rizzi, F.3
Simionati, B.4
Nigro, V.5
Cardazzo, B.6
Patarnello, T.7
Valle, G.8
Danieli, G.A.9
-
33
-
-
0033855389
-
Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations
-
Pfeiffer P, Goedecke W, Obe G. 2000. Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations. Mutagenesis 15:289-302.
-
(2000)
Mutagenesis
, vol.15
, pp. 289-302
-
-
Pfeiffer, P.1
Goedecke, W.2
Obe, G.3
-
34
-
-
60549106509
-
Disruption of the neurexin 1 gene is associated with schizophrenia
-
Rujescu D, Ingason A, Cichon S, Pietiläinen OPH, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Möller H-J, Hartmann AM, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Djurovic S, Melle I, Andreassen OA, Hansen T, Werge T, Kiemeney LA, Franke B, Veltman J, Buizer-Voskamp JE, Sabatti C, Ophoff RA, Rietschel M, Nöthen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA. 2009. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet 18:988-996.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 988-996
-
-
Rujescu, D.1
Ingason, A.2
Cichon, S.3
Pietiläinen, O.P.H.4
Barnes, M.R.5
Toulopoulou, T.6
Picchioni, M.7
Vassos, E.8
Ettinger, U.9
Bramon, E.10
Murray, R.11
Ruggeri, M.12
Tosato, S.13
Bonetto, C.14
Steinberg, S.15
Sigurdsson, E.16
Sigmundsson, T.17
Petursson, H.18
Gylfason, A.19
Olason, P.I.20
Hardarsson, G.21
Jonsdottir, G.A.22
Gustafsson, O.23
Fossdal, R.24
Giegling, I.25
Möller, H.-J.26
Hartmann, A.M.27
Hoffmann, P.28
Crombie, C.29
Fraser, G.30
Walker, N.31
Lonnqvist, J.32
Suvisaari, J.33
Tuulio-Henriksson, A.34
Djurovic, S.35
Melle, I.36
Andreassen, O.A.37
Hansen, T.38
Werge, T.39
Kiemeney, L.A.40
Franke, B.41
Veltman, J.42
Buizer-Voskamp, J.E.43
Sabatti, C.44
Ophoff, R.A.45
Rietschel, M.46
Nöthen, M.M.47
Stefansson, K.48
Peltonen, L.49
St Clair, D.50
Stefansson, H.51
Collier, D.A.52
more..
-
35
-
-
1842526843
-
Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease
-
Spec No 1.
-
Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 13:R57-R64. Spec No 1.
-
(2004)
Hum Mol Genet
, vol.13
-
-
Shaw, C.J.1
Lupski, J.R.2
-
36
-
-
11244287233
-
Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms
-
Shaw CJ, Lupski JR. 2005. Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms. Hum Genet 116:1-7.
-
(2005)
Hum Genet
, vol.116
, pp. 1-7
-
-
Shaw, C.J.1
Lupski, J.R.2
-
37
-
-
77950462986
-
Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4-ligase IV during chromosomal translocation formation
-
Simsek D, Jasin M. 2010. Alternative end-joining is suppressed by the canonical NHEJ component Xrcc4-ligase IV during chromosomal translocation formation. Nat Struct Mol Biol 17:410-416.
-
(2010)
Nat Struct Mol Biol
, vol.17
, pp. 410-416
-
-
Simsek, D.1
Jasin, M.2
-
38
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
-
(2002)
Trends Genet
, vol.18
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
39
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietiläinen OPH, Ingason A, Steinberg S, Fossdal R, Sigurdsson E, Sigmundsson T, Buizer-Voskamp JE, Hansen T, Jakobsen KD, Muglia P, Francks C, Matthews PM, Gylfason A, Halldorsson BV, Gudbjartsson D, Thorgeirsson TE, Sigurdsson A, Jonasdottir A, Jonasdottir A, Bjornsson A, Mattiasdottir S, Blondal T, Haraldsson M, Magnusdottir BB, Giegling I, Möller H-J, Hartmann A, Shianna KV, Ge D, Need AC, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Paunio T, Toulopoulou T, Bramon E, Di Forti M, Murray R, Ruggeri M, Vassos E, Tosato S, Walshe M, Li T, Vasilescu C, Mühleisen TW, Wang AG, Ullum H, Djurovic S, Melle I, Olesen J, Kiemeney LA, Franke B, Sabatti C, Freimer NB, Gulcher JR, Thorsteinsdottir U, Kong A, Andreassen OA, Ophoff RA, Georgi A, Rietschel M, Werge T, Petursson H, Goldstein DB, Nöthen MM, Peltonen L, Collier DA, St Clair D, Stefansson K. 2008. Large recurrent microdeletions associated with schizophrenia. Nature 455:232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietiläinen, O.P.H.4
Ingason, A.5
Steinberg, S.6
Fossdal, R.7
Sigurdsson, E.8
Sigmundsson, T.9
Buizer-Voskamp, J.E.10
Hansen, T.11
Jakobsen, K.D.12
Muglia, P.13
Francks, C.14
Matthews, P.M.15
Gylfason, A.16
Halldorsson, B.V.17
Gudbjartsson, D.18
Thorgeirsson, T.E.19
Sigurdsson, A.20
Jonasdottir, A.21
Jonasdottir, A.22
Bjornsson, A.23
Mattiasdottir, S.24
Blondal, T.25
Haraldsson, M.26
Magnusdottir, B.B.27
Giegling, I.28
Möller, H.-J.29
Hartmann, A.30
Shianna, K.V.31
Ge, D.32
Need, A.C.33
Crombie, C.34
Fraser, G.35
Walker, N.36
Lonnqvist, J.37
Suvisaari, J.38
Tuulio-Henriksson, A.39
Paunio, T.40
Toulopoulou, T.41
Bramon, E.42
Di Forti, M.43
Murray, R.44
Ruggeri, M.45
Vassos, E.46
Tosato, S.47
Walshe, M.48
Li, T.49
Vasilescu, C.50
Mühleisen, T.W.51
Wang, A.G.52
Ullum, H.53
Djurovic, S.54
Melle, I.55
Olesen, J.56
Kiemeney, L.A.57
Franke, B.58
Sabatti, C.59
Freimer, N.B.60
Gulcher, J.R.61
Thorsteinsdottir, U.62
Kong, A.63
Andreassen, O.A.64
Ophoff, R.A.65
Georgi, A.66
Rietschel, M.67
Werge, T.68
Petursson, H.69
Goldstein, D.B.70
Nöthen, M.M.71
Peltonen, L.72
Collier, D.A.73
St Clair, D.74
Stefansson, K.75
more..
-
40
-
-
18744400225
-
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
-
Toffolatti L, Cardazzo B, Nobile C, Danieli GA, Gualandi F, Muntoni F, Abbs S, Zanetti P, Angelini C, Ferlini A, Fanin M, Patarnello T. 2002. Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics 80:523-530.
-
(2002)
Genomics
, vol.80
, pp. 523-530
-
-
Toffolatti, L.1
Cardazzo, B.2
Nobile, C.3
Danieli, G.A.4
Gualandi, F.5
Muntoni, F.6
Abbs, S.7
Zanetti, P.8
Angelini, C.9
Ferlini, A.10
Fanin, M.11
Patarnello, T.12
-
41
-
-
70350776635
-
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture
-
Vissers LELM, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BBA, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P. 2009. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 18:3579-3593.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3579-3593
-
-
Vissers, L.E.L.M.1
Bhatt, S.S.2
Janssen, I.M.3
Xia, Z.4
Lalani, S.R.5
Pfundt, R.6
Derwinska, K.7
de Vries, B.B.A.8
Gilissen, C.9
Hoischen, A.10
Nesteruk, M.11
Wisniowiecka-Kowalnik, B.12
Smyk, M.13
Brunner, H.G.14
Cheung, S.W.15
van Kessel, A.G.16
Veltman, J.A.17
Stankiewicz, P.18
-
42
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King M-C, Sebat J. 2008. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320:539-543.
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Nord, A.S.7
Kusenda, M.8
Malhotra, D.9
Bhandari, A.10
Stray, S.M.11
Rippey, C.F.12
Roccanova, P.13
Makarov, V.14
Lakshmi, B.15
Findling, R.L.16
Sikich, L.17
Stromberg, T.18
Merriman, B.19
Gogtay, N.20
Butler, P.21
Eckstrand, K.22
Noory, L.23
Gochman, P.24
Long, R.25
Chen, Z.26
Davis, S.27
Baker, C.28
Eichler, E.E.29
Meltzer, P.S.30
Nelson, S.F.31
Singleton, A.B.32
Lee, M.K.33
Rapoport, J.L.34
King, M.-C.35
Sebat, J.36
more..
-
43
-
-
35948984173
-
PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M. 2007. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674.
-
(2007)
Genome Res
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.A.6
Hakonarson, H.7
Bucan, M.8
-
44
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler DA, Srinivasan M, Egholm M, Shen Y, Chen L, McGuire A, He W, Chen Y-J, Makhijani V, Roth GT, Gomes X, Tartaro K, Niazi F, Turcotte CL, Irzyk GP, Lupski JR, Chinault C, Song X, Liu Y, Yuan Y, Nazareth L, Qin X, Muzny DM, Margulies M, Weinstock GM, Gibbs RA, Rothberg JM. 2008. The complete genome of an individual by massively parallel DNA sequencing. Nature 452:872-876.
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
Shen, Y.4
Chen, L.5
McGuire, A.6
He, W.7
Chen, Y.-J.8
Makhijani, V.9
Roth, G.T.10
Gomes, X.11
Tartaro, K.12
Niazi, F.13
Turcotte, C.L.14
Irzyk, G.P.15
Lupski, J.R.16
Chinault, C.17
Song, X.18
Liu, Y.19
Yuan, Y.20
Nazareth, L.21
Qin, X.22
Muzny, D.M.23
Margulies, M.24
Weinstock, G.M.25
Gibbs, R.A.26
Rothberg, J.M.27
more..
-
45
-
-
77954381448
-
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay
-
Wiśniowiecka-Kowalnik B, Nesteruk M, Peters SU, Xia Z, Cooper ML, Savage S, Amato RS, Bader P, Browning MF, Haun CL, Duda AW III, Cheung SW, Stankiewicz P. 2010. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B 153B:983-993.
-
(2010)
Am J Med Genet B
, vol.153
, pp. 983-993
-
-
Wiśniowiecka-Kowalnik, B.1
Nesteruk, M.2
Peters, S.U.3
Xia, Z.4
Cooper, M.L.5
Savage, S.6
Amato, R.S.7
Bader, P.8
Browning, M.F.9
Haun, C.L.10
Duda III, A.W.11
Cheung, S.W.12
Stankiewicz, P.13
-
46
-
-
67649878596
-
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
-
Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR. 2009. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41:849-853.
-
(2009)
Nat Genet
, vol.41
, pp. 849-853
-
-
Zhang, F.1
Khajavi, M.2
Connolly, A.M.3
Towne, C.F.4
Batish, S.D.5
Lupski, J.R.6
-
47
-
-
77953232121
-
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability
-
Zhang F, Seeman P, Liu P, Weterman MAJ, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause K-H, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR. 2010. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: Rare CNVs as a cause for missing heritability. Am J Hum Genet 86:892-903.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 892-903
-
-
Zhang, F.1
Seeman, P.2
Liu, P.3
Weterman, M.A.J.4
Gonzaga-Jauregui, C.5
Towne, C.F.6
Batish, S.D.7
De Vriendt, E.8
De Jonghe, P.9
Rautenstrauss, B.10
Krause, K.-H.11
Khajavi, M.12
Posadka, J.13
Vandenberghe, A.14
Palau, F.15
Van Maldergem, L.16
Baas, F.17
Timmerman, V.18
Lupski, J.R.19
-
49
-
-
84878933234
-
Increased genome instability in human DNA segments with self-chains: Homology-induced structural variations via replicative mechanisms
-
Zhou W, Zhang F, Chen X, Shen Y, Lupski JR, Jin L. 2013. Increased genome instability in human DNA segments with self-chains: Homology-induced structural variations via replicative mechanisms. Hum Mol Genet 22:2642-2651.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 2642-2651
-
-
Zhou, W.1
Zhang, F.2
Chen, X.3
Shen, Y.4
Lupski, J.R.5
Jin, L.6
|